25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
87 citations
,
March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
112 citations
,
January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
41 citations
,
May 2020 in “Frontiers in immunology” This review discusses the genetic, autoinflammatory, and keratinization factors involved in hidradenitis suppurativa and presents the concept of classifying it as an autoinflammatory keratinization disease, but reports no new clinical results.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” This review discusses the role of zebrafish as a model for studying human hereditary pigmentary disorders and reports no new experimental results, emphasizing their genetic similarities and the genetic tools available.
9 citations
,
September 2024 in “Journal of Clinical Medicine” This review examines the role of autoinflammation and immune dysregulation in hidradenitis suppurativa, linking it to genetic factors and autoinflammatory syndromes, but highlights the need for further research to fully understand its pathogenic mechanisms.
27 citations
,
July 2013 in “Journal of Dermatological Science” The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
144 citations
,
August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
123 citations
,
December 2015 in “Journal of Neuroendocrinology” This review discusses recent strategies targeting the neuroactive steroid biosynthetic pathway to enhance neurosteroidogenesis, highlighting their potential benefits for neurodegenerative and neuropsychiatric diseases, but reports no new clinical findings.
112 citations
,
January 2014 in “Molecular and cellular therapies” This review summarizes the current understanding of Wnt signaling in relation to its roles in tissue regeneration and cancer progression and discusses recent medical advancements targeting this pathway for therapeutic purposes.
78 citations
,
October 2020 in “Experimental Dermatology” This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.
68 citations
,
May 2016 in “Experimental dermatology” This review discusses what is known about the pathobiology of frontal fibrosing alopecia and reports no new clinical findings, highlighting potential environmental and genetic factors in disease pathogenesis.
66 citations
,
March 2018 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews the role of perifollicular regulatory T cells in maintaining hair follicle integrity in the context of hidradenitis suppurativa and calls attention to inflammatory mechanisms without reporting new clinical results.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
27 citations
,
June 2023 in “Nature” In this study using genetic mouse models, researchers discovered that senescent melanocytes in nevi secrete osteopontin, which activates hair stem cells, enhancing hair growth; this process is mirrored in human hairy nevi, suggesting a potential therapeutic target for regenerative disorders.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
12 citations
,
December 2021 in “Aging” This study demonstrated that a new non-invasive method for collecting and analyzing mouse hair follicles could replace traditional biopsy methods, providing advantages for translational research and routine applications.
12 citations
,
April 2014 in “Molecular Medicine Reports” In this study, transcriptome analysis identified 68 differentially expressed miRNAs in human dermal papilla cells treated with hydrogen peroxide, suggesting they play a significant role in growth arrest and apoptosis.
6 citations
,
May 2022 in “Frontiers in physiology” This study suggests that an in ovo injection of CHIR-99021 promoted feather growth and follicle development in goose embryos by activating the Wnt signaling pathway.
6 citations
,
July 2018 in “Scientific Reports” In this study, gene expression changes in rat whisker follicles after methamphetamine administration may serve as indicators of the drug's rewarding effects and potential addiction pathways.
6 citations
,
October 2016 in “Food Science and Biotechnology” This study found that the water extract of Bituminaria bituminosa demonstrated the highest antioxidant activity and α-glucosidase inhibition among tested extracts, but no cholinesterase or tyrosinase inhibition.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
1 citations
,
July 2025 in “Science & Education” This study introduces a framework to help laypeople evaluate scientific information based on its relevance to specific needs by categorizing causal information into two epistemic games, enhancing their ability to make informed decisions, with a focus on genetics education for practical application.
1 citations
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April 2018 in “Revista da Sociedade Portuguesa de Dermatologia e Venereologia” This article reviews the prevalence, causes, and associated conditions of hidradenitis suppurativa, a chronic inflammatory skin disease, but reports no new clinical findings.
April 2026 in “Research Square” This study found that dapagliflozin enhanced mitochondrial quality control and adaptive autophagy in human cardiomyocytes under hypoxic stress, suggesting that these mechanisms may contribute to the cardioprotective effects of sodium-glucose cotransporter 2 inhibitors in ischemic injury.
January 2021 in “Research Square (Research Square)” This study found that Wan strain Angora rabbits with high wool production exhibited higher hair follicle density and identified long noncoding RNAs that may regulate this trait.
September 2020 in “Research Square (Research Square)” This study found that Wan strain Angora rabbits with high wool production had higher hair follicle density and identified five long noncoding RNAs as potential regulators of this trait.